NEK1 - NIMA related kinase 1 Gene

Also Known as ALS24; SRPS2; SRTD6; SRPS2A; NY-REN-55

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子ID: 4750

About NEK1

Cytogenetic location: 4q33 Genomic coordinates (GRCh38): 4:169,392,809-169,612,583 (from NCBI)

This gene has 28 transcripts (splice variants), 202 orthologues, 8 paralogues and is associated with 7 phenotypes. Ubiquitous expression in testis (RPKM 6.8), brain (RPKM 4.8) and 25 other tissues.

Summary

The protein encoded by this gene is a serine/threonine kinase involved in cell cycle regulation. The encoded protein is found in a centrosomal complex with FEZ1, a neuronal protein that plays a role in axonal development. Defects in this gene are a cause of polycystic kidney disease (PKD). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2010]

NEK1 Products (11)

mRNA	Protein	Name
NM_001199397.3	NP_001186326.1	serine/threonine-protein kinase Nek1 isoform 1
NM_001199398.3	NP_001186327.1	serine/threonine-protein kinase Nek1 isoform 3
NM_001199399.3	NP_001186328.1	serine/threonine-protein kinase Nek1 isoform 4
NM_001199400.3	NP_001186329.1	serine/threonine-protein kinase Nek1 isoform 5
NM_001374418.1	NP_001361347.1	serine/threonine-protein kinase Nek1 isoform 1
NM_001374419.1	NP_001361348.1	serine/threonine-protein kinase Nek1 isoform 2
NM_001374420.1	NP_001361349.1	serine/threonine-protein kinase Nek1 isoform 6
NM_001374421.1	NP_001361350.1	serine/threonine-protein kinase Nek1 isoform 7
NM_001374422.1	NP_001361351.1	serine/threonine-protein kinase Nek1 isoform 8
NM_001374423.1	NP_001361352.1	serine/threonine-protein kinase Nek1 isoform 8
NM_012224.4	NP_036356.1	serine/threonine-protein kinase Nek1 isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	参考文献	由来
enables kinase activity	IMP IMP: Inferred from mutant phenotype	19158487	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	14690447	GOA
enables protein kinase activity	IDA IDA: Inferred from direct assay	15604234	GOA

Biological Process GO Annotation	Evidence	参考文献	由来
involved in cilium assembly	IMP IMP: Inferred from mutant phenotype	21211617	GOA
involved in protein phosphorylation	IDA IDA: Inferred from direct assay	19158487	GOA

Cellular Component GO Annotation	Evidence	参考文献	由来
located in centrosome	IDA IDA: Inferred from direct assay	21399614	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	15604234	GOA
located in nucleus	IDA IDA: Inferred from direct assay	15604234	GOA
located in pericentriolar material	IDA IDA: Inferred from direct assay	21211617	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

NEK1 Protein Structure

Pkinase

0
200
400
600
800
1000
1200
1258 a.a.

Protein Preferred Names	Protein Names
serine/threonine-protein kinase Nek1	NIMA (never in mitosis gene a)-related kinase 1

NEK1 Protein-protein interaction Information

Type	タンパク質名	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	参考文献
Intra	NEK1	Q96PY6	LRRK2	Homo sapiens	Q5S007	Protein Array	24947832

Cross: Cross-species interaction Intra: Intraspecies interaction

関連疾患

Diseases	Alias
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Majewski Syndrome SRTD6 Srps2a Short Rib-Polydactyly Syndrome, Majewski Type Polydactyly With Neonatal Chondrodystrophy, Type Ii Short Rib-Polydactyly Syndrome Type Iia Short Rib-Polydactyly Syndrome Type 2 Short Rib-Polydactyly Syndrome Type Ii Short Rib-Polydactyly Syndrome, Type Ii Srps, Type Ii Short Rib-Polydactyly Syndrome, Type Iia Polydactyly With Neonatal Chondrodystrophy Type 2 Srps Type 2 Short Rib-Polydactyly Syndrome Majewski Type Polydactyly With Neonatal Chondrodystrophy Type Ii Short Rib-Polydactyly Syndrome 2a Srps Type Ii
Amyotrophic Lateral Sclerosis 24	Amyotrophic Lateral Sclerosis, Susceptibility To, 24 ALS24 {Amyotrophic Lateral Sclerosis, Susceptibility To, 24}
Mohr Syndrome	Ofd2 Orofaciodigital Syndrome Ii Oral-Facial-Digital Syndrome Type 2 Ofds Ii Oral-Facial-Digital Syndrome, Type Ii Orofaciodigital Syndrome 2 Ofd Syndrome 2 Ofds 2 Oral Facial Digital Syndrome 2 Oral Facial Digital Syndrome Type 2 Orofaciodigital Syndrome Type 2 Oral-Facial-Digital Syndrome, Type 2
Short-Rib Thoracic Dysplasia 12	Beemer-Langer Syndrome Type Iv Short Rib Polydactyly Syndrome Short Rib-Polydactyly Syndrome Type 4 Short Rib-Polydactyly Syndrome, Beemer Type SRTD12 Short Rib-Polydactyly Syndrome, Type Iv Srps4 Srps Iv Short Rib Syndrome, Beemer Type Beemer Langer Syndrome Srps Type 4 Short Rib Polydactyly Syndrome Beemer-Langer Type Short Rib-Polydactyly Syndrome Beemer Type Short Rib-Polydactyly Syndrome Type Iv Short Rib-Polydactyly Syndrome, Beemer-Langer Type
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Asphyxiating Thoracic Dystrophy 3 Saldino-Noonan Syndrome SRTD3 Atd3 Srps1 Srps3 Verma-Naumoff Syndrome Srps2b Short Rib-Polydactyly Syndrome, Verma-Naumoff Type Short Rib-Polydactyly Syndrome, Type I Polydactyly With Neonatal Chondrodystrophy, Type I Polydactyly With Neonatal Chondrodystrophy, Type Iii Short Rib-Polydactyly Syndrome, Type Iib Short Rib-Polydactyly Syndrome Type 3 Polydactyly With Neonatal Chondrodystrophy Type Iii Short Rib-Polydactyly Syndrome Type Iii Short Rib-Polydactyly Syndrome Type 1 Short Rib-Polydactyly Syndrome, Saldino-Noonan Type Majewski Syndrome Short Rib-Polydactyly Syndrome, Type Iii Type I Short Rib Polydactyly Syndrome Srps Type 3 Short Rib Polydactyly Syndrome Verma Naumoff Type Verma Naumoff Syndrome Polydactyly With Neonatal Chondrodystrophy Type 1 Srps Type 1 Short Rib-Polydactyly Syndrome Saldino-Noonan Type Jatd Jeune Asphyxiating Thoracic Dystrophy Jeune Syndrome 3 Polydactyly With Neonatal Chondrodystrophy Type I Short Rib-Polydactyly Syndrome Type I Short Rib-Polydactyly Syndrome Type Iib Srps Type Iib Srps Type Iii
Connective Tissue Disease	Connective Tissue Diseases Connective Tissue Disorder Abnormality Of Connective Tissue Disorder Of Connective Tissue Connective Tissue Disorders
Motor Neuron Disease	Anterior Horn Cell Disease Motor Neuron Diseases Mnd - [Motor Neurone Disease] Lou Gehrig Disease Creeping Palsy Creeping Paralysis Bulbar Motor Neuron Disease Bulbar Syndrome Anterior Horn Cell Disorder Hereditary Motor Neuron Disease
Amyotrophic Lateral Sclerosis 1	Amyotrophic Lateral Sclerosis ALS Lou Gehrig Disease Amyotrophic Lateral Sclerosis Type 1 Charcot Disease ALS1 Amyotrophic Lateral Sclerosis, Susceptibility To Fals Lou Gehrig'S Disease Mnd Motor Neuron Disease Familial Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis 1, Familial Amyotrophic Lateral Sclerosis 1, Autosomal Dominant Motor Neuron Disease, Bulbar Motor Neurone Disease Amyotrophic Lateral Sclerosis With Dementia Dementia With Amyotrophic Lateral Sclerosis Motor Neuron Disease, Amyotrophic Lateral Sclerosis Sclerosis, Lateral, Amyotrophic Sclerosis, Lateral, Amyotrophic, Type 1 Amyotrophic Sclerosis Als - [Amyotrophic Lateral Sclerosis] Wasting Palsy Amyotrophic Paralysis Amyotrophy Lateral Sclerosis Wasting Paralysis Spinal Progressive Amyotrophy Progressive Atrophic Paralysis
Spondylometaphyseal Dysplasia, Axial	Axial Spondylometaphyseal Dysplasia SMDAX Axial Smd Smd Axial Smd, Axial Spondylometaphyseal Dysplasia Axial Type Dysplasia, Spondylometaphyseal, Axial
Polycystic Kidney Disease	Polycystic Kidney Diseases Pkd Polycystic Renal Disease Kidney Disease, Polycystic Polycystic Kidney, Autosomal Dominant
Polydactyly	Non-Syndromic Polydactyly Polydactyly, Postaxial Postaxial Polydactyly Supernumerary Digit Extra Digits Hyperdactyly Polydactylia Polydactylism Supernumerary Digits
Lateral Sclerosis	Primary Lateral Sclerosis Adult-Onset Primary Lateral Sclerosis Adult-Onset Pls Motor Neuron Disease Pls Pls - [Primary Lateral Sclerosis] Lateral Spinal Sclerosis Lateral Complete Paralysis Lateral Incomplete Paralysis Lateral Paralysis
Ellis-Van Creveld Syndrome	Chondroectodermal Dysplasia Mesoectodermal Dysplasia EVC Ellis Van Creveld Syndrome Mesodermic Dysplasia Ellis-Van Creveld Dysplasia
Achondrogenesis, Type Ia	Achondrogenesis Type Ia Achondrogenesis Type 1a ACG1A Achondrogenesis, Houston-Harris Type Achondrogenesis Houston-Harris Type Achondrogenesis 1a Acg-Ia
Asphyxiating Thoracic Dystrophy	Jeune Thoracic Dystrophy Jeune Syndrome Asphyxiating Thoracic Dysplasia Short-Rib Thoracic Dysplasia With Or Without Polydactyly Thoracic Pelvic Phalangeal Dystrophy Asphyxiating Thoracic Chondrodystrophy Atd Chondroectodermal Dysplasia-Like Syndrome Infantile Thoracic Dystrophy Jeune Thoracic Dysplasia Thoracic Asphyxiant Dystrophy Thoracic-Pelvic-Phalangeal Dystrophy Short-Rib Thoracic Dysplasia Without Polydactyly Asphyxiating Thoracic Dystrophy Of The Newborn Asphyxiating Thorax Dystrophy
Myopathy, Myofibrillar, 6	Myofibrillar Myopathy 6 MFM6 Myopathy, Myofibrillar, Bag3-Related Bag3-Related Myofibrillar Myopathy Muscular Dystrophy, Selcen Type Mfm Bag3-Related Muscular Dystrophy Selcen Type Myopathy Myofibrillar Bag3-Related
Kidney Disease	Renal Failure Kidney Failure Kidney Diseases Nephropathy Abnormality Of The Kidney Impaired Renal Function Disease Renal Anomaly Kidney Dysfunction Renal Disease Nephropathies Renal Failure Adverse Event Abnormal Renal Function
Neuronopathy, Distal Hereditary Motor, Type Iib	HMN2B Hmn Iib Neuropathy, Distal Hereditary Motor, Type Iib Dhmn2b Distal Hereditary Motor Neuropathy Type 2b Distal Hereditary Motor Neuropathy Type Iib Neuronopathy, Distal Hereditary Motor, Type 2b Neuronopathy, Distal Hereditary Motor, 2b Dhmn Ii Neuropathy, Motor, Distal, Hereditary, Type 2b
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations	MCCCHCM
Uterine Adnexa Cancer
Frontotemporal Dementia	Pallidopontonigral Degeneration Frontotemporal Lobar Degeneration Semantic Dementia FTD Frontotemporal Lobe Dementia Multiple System Tauopathy With Presenile Dementia Dementia, Frontotemporal Frontotemporal Dementia With Parkinsonism Mstd Frontotemporal Lobar Degeneration With Tau Inclusions Ftld With Tau Inclusions Dementia, Frontotemporal, With Parkinsonism Fldem Ftdp17 Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex Ddpac Wilhelmsen-Lynch Disease Wld Ppnd Dementia, Frontotemporal, With Or Without Parkinsonism Semantic Primary Progressive Aphasia Semantic Variant Ppa Wilhemsen-Lynch Disease Frontotemporal Dementia-Amyotrophic Lateral Sclerosis Frontotemporal Dementia And Parkinsonism Linked To Chromosome 17 Ftd-Als Ftld Pick Complex Pick Disease Of The Brain Frontotemporal Dementia With Parkinsonism-17 Grn-Related Frontotemporal Dementia Frontotemporal Dementia With Motor Neuron Disease Dementia In Fronto-Temporal Lobar Degeneration Ftd - [Frontotemporal Dementia] Temple Dementia Frontal Lobe Dementia
Cranioectodermal Dysplasia	Sensenbrenner Syndrome Levin Syndrome 1 Ced Levin Syndrome Dysplasia, Cranioectodermal
Gastric Teratoma	Teratoma Of Stomach
Weyers Acrofacial Dysostosis	Curry-Hall Syndrome Weyers Acrodental Dysostosis WAD Acrodental Dysostosis Of Weyers Acrofacial Dysostosis, Weyers Type Acrofacial Dysostosis Of Weyers Curry Hall Syndrome
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1	FTDALS1 Frontotemporal Dementia And/Or Motor Neuron Disease Ftdmnd Amyotrophic Lateral Sclerosis And/Or Frontotemporal Dementia Alsftd Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis-1 Frontotemporal Dementia With Motor Neuron Disease Ftdals Ftd-Als Ftd-Mnd Frontotemporal Dementia With Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis With Frontotemporal Dementia 1 Amyotrophic Lateral Sclerosis/Frontotemporal Dementia Dementia, Frontotemporal, And/Or Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis And/Or Frontotemporal Dementia 1 Frontotemporal Lobar Degeneration Grn-Related Frontotemporal Dementia
Bardet-Biedl Syndrome	Bbs Biedl-Bardet Syndrome
Chromosome 2q35 Duplication Syndrome	Syndactyly Syndactyly Type 1 Sdty1 Zygodactyly Syndactyly, Type I Sd1 Syndactyly, Type 1, With Or Without Craniosynostosis Symphalangism Non-Syndromic Syndactyly Symphalangy Webbing Of Digits Syndactyly, Type 1
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Asphyxiating Thoracic Dystrophy 1 Jeune Syndrome SRTD1 Atd1 Asphyxiating Thoracic Dystrophy Of The Newborn Jatd Jeune Asphyxiating Thoracic Dystrophy Thoracic-Pelvic-Phalangeal Dystrophy Atd Asphyxiating Thoracic Dystrophy Chondroectodermal Dysplasia-Like Syndrome Infantile Thoracic Dystrophy Jeune'S Syndrome Thoracic Pelvic Phalangeal Dystrophy Jeune Thoracic Dystrophy
Cystic Kidney Disease	Renal Cyst Simple Renal Cyst Kidney Cysts Kidney Diseases, Cystic Renal Cysts Kidney Cyst Cystic Kidney Congenital Cystic Kidney Disease Cystic Kidney Diseases Bosniak 1 Cyst
Nephronophthisis	Medullary Cystic Disease Medullary Cystic Kidney Nph Nphp Kidney Disease, Cystic, Medullary
Osteochondrodysplasia	Skeletal Dysplasia Chondrodystrophy Congenital Anomaly Of Cartilage Osteochondrodysplasias Cartilage Development Disorder Osteochondrodysplasia Syndrome Dysplasia, Skeletal Mucopolysaccharidosis Iv
Joubert Syndrome 1	Joubert Syndrome Jbts Cerebellooculorenal Syndrome 1 JBTS1 Joubert-Boltshauser Syndrome Cerebelloparenchymal Disorder Iv Cpd4 Cors1 Joubert Syndrome And Related Disorders Jsrd Familial Aplasia Of The Vermis Joubert Syndrome Related Disorders Js Cerebellar Vermis Agenesis Cerebelloparenchymal Disorder 4 Agenesis Of Cerebellar Vermis Cerebello-Oculo-Renal Syndrome Cors Joubert-Bolthauser Syndrome Cpd Iv Classic Joubert Syndrome Joubert Syndrome Type A Pure Joubert Syndrome Cerebello-Oculo-Renal Syndrome 1 Joubert Syndrome-1 Joubert Syndrome, Type 1 Joubert'S Syndrome
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (2)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-144425	BSc5367		98.21%	Unkown
HY-103646	CK7	Inhibitor	99.72%	Unkown

Orthologs Information

生物種	Symbol	由来	ID
Felis catus	NEK1	VGNC	VGNC:78531
Macaca mulatta	NEK1	VGNC	VGNC:81482
Canis familiaris	NEK1	VGNC	VGNC:43729
Rattus norvegicus	NEK1	RGD	RGD:1309375
Bos taurus	NEK1	VGNC	VGNC:31991
Mus musculus	NEK1	MGD	MGI:97303
Others	NEK1	NCBI